Variant report

Variant	rs3115912
Chromosome Location	chr8:94951254-94951255
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28758779	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3115898	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115904	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115905	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115906	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115907	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115908	1.00[EUR][1000 genomes]
rs3115909	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115910	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115914	0.82[ASN][1000 genomes]
rs3133978	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133979	1.00[EUR][1000 genomes]
rs3133980	1.00[EUR][1000 genomes]
rs3133983	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3133984	1.00[EUR][1000 genomes]
rs34468383	0.87[EUR][1000 genomes]
rs57919376	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58328810	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58550934	0.96[EUR][1000 genomes]
rs58894594	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59390113	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525235	0.96[EUR][1000 genomes]
rs62525237	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525238	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525240	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62525241	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723039	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754970	chr8:94675324-94991724	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94948200-94956600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:94948400-94956400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:94948600-94952200	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:94948800-94952000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:94948800-94952200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:94948800-94952800	Weak transcription	HSMMtube	muscle
7	chr8:94948800-94955800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:94948800-94955800	Weak transcription	Ovary	ovary
9	chr8:94948800-94956200	Weak transcription	NHLF	lung
10	chr8:94949000-94954200	Weak transcription	Right Ventricle	heart
11	chr8:94950400-94951400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:94950400-94951800	Enhancers	Osteobl	bone
13	chr8:94950600-94951400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr8:94950600-94951600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:94950600-94951600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr8:94950600-94951600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr8:94950600-94951800	Enhancers	NHDF-Ad	bronchial
18	chr8:94950800-94951400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:94950800-94951400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:94950800-94951400	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:94950800-94951400	Enhancers	Left Ventricle	heart
22	chr8:94950800-94951400	Enhancers	Lung	lung
23	chr8:94950800-94951400	Enhancers	Right Atrium	heart
24	chr8:94950800-94951600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr8:94950800-94951600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:94950800-94951600	Enhancers	NH-A	brain
27	chr8:94950800-94951800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:94950800-94953800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:94950800-94954000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr8:94951000-94951800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:94951000-94952200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:94951000-94952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:94951000-94955600	Weak transcription	Psoas Muscle	Psoas
34	chr8:94951200-94951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:94951200-94952400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:94951200-94955800	Weak transcription	Fetal Heart	heart

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